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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL11A1

Variant:p.P1263L

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COL11A1

NM_001854.4:p.P1263L

hg38:chr1:102915659 G>A

Associated Papers

A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.

Berry V et al.

Ophthalmic Genetics, 2022

35736209 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."